Cytochrome c oxidase (COX) deficiency

Definition:

Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex IV). Since COX is encoded by nuclear and mitochondrial genes, COX deficiency can be inherited in either an autosomal recessive or a maternal pattern. Patients can present with a number of different clinical phenotypes, including Leigh syndrome, Fatal infantile cardioencephalomyopathy, and Leber hereditary optic neuropathy.

References:

[1]. Bassam Abu-Libdeh, et al. Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. Eur J Hum Genet. 2017 Oct;25(10):1142-1146. [Content Brief]

[2]. C Bruno, et al. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet. 1999 Sep;65(3):611-20. [Content Brief]

[3]. Daniele Ghezzi, et al. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet. 2008 Sep;83(3):415-23. [Content Brief]

[4]. E A Shoubridge, et al. Cytochrome c oxidase deficiency. Am J Med Genet. 2001 Spring;106(1):46-52. [Content Brief]

[5]. Elsebet Ostergaard, et al. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. J Med Genet. 2015 Mar;52(3):203-7. [Content Brief]

[6]. Fabian Baertling, et al. Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. Hum Mutat. 2017 Jun;38(6):692-703. [Content Brief]

[7]. Fabian Baertling, et al. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. Hum Mutat. 2015 Jan;36(1):34-8. [Content Brief]

[8]. G H Renkema, et al. Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. Hum Genet. 2017 Jun;136(6):759-769. [Content Brief]

[9]. I Valnot, et al. A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. Hum Mol Genet. 2000 May 1;9(8):1245-9. [Content Brief]

[10]. I Valnot, et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet. 2000 Nov;67(5):1104-9. [Content Brief]

[11]. J A Keightley, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet. 1996 Apr;12(4):410-6. [Content Brief]

[12]. K M Clark, et al. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. Am J Hum Genet. 1999 May;64(5):1330-9. [Content Brief]

[13]. Kerstin Hallmann, et al. Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain. 2016 Feb;139(Pt 2):338-45. [Content Brief]

[14]. L C Papadopoulou, et al. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet. 1999 Nov;23(3):333-7. [Content Brief]

[15]. Laura Melchionda, et al. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet. 2014 Sep 4;95(3):315-25. [Content Brief]

[16]. Liesbeth T M Wintjes, et al. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. [Content Brief]

[17]. Majid Alfadhel, et al. Infantile cardioencephalopathy due to a COX15 gene defect: report and review. Am J Med Genet A. 2011 Apr;155A(4):840-4. [Content Brief]

[18]. Merei Huigsloot, et al. A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. Am J Hum Genet. 2011 Apr 8;88(4):488-93. [Content Brief]

[19]. Michio Inoue, et al. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol. 2019 Aug;86(2):193-202. [Content Brief]

[20]. Radek Szklarczyk, et al. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Hum Mol Genet. 2013 Feb 15;22(4):656-67. [Content Brief]

[21]. Robert D S Pitceathly, et al. NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep. 2013 Jun 27;3(6):1795-805. [Content Brief]

[22]. Sze Chern Lim, et al. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Am J Hum Genet. 2014 Feb 6;94(2):209-22. [Content Brief]

[23]. Valeria Massa, et al. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet. 2008 Jun;82(6):1281-9. [Content Brief]

[24]. Vamsi K Mootha, et al. Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. [Content Brief]

[25]. Woranontee Weraarpachai, et al. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet. 2009 Jul;41(7):833-7. [Content Brief]

[26]. Woranontee Weraarpachai, et al. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. Am J Hum Genet. 2012 Jan 13;90(1):142-51. [Content Brief]

[27]. Z Zhu, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet. 1998 Dec;20(4):337-43. [Content Brief]

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